Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Year : 2017 | Month : March | Volume : 11 | Issue : 3 | Page : ND01 - ND02

Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms

Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty

1. Professor and Head, Department of Ophthalmology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India. 2. Junior Resident, Department of Ophthalmology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India. 3. Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India. 4. Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.

Correspondence Address :
Dr. Sidharth Pradhan,
Room no.130, Sushruta Hostel, Trauma Centre Campus, IMS BHU, Varanasi, Uttar Pradesh, India.
E-mail: pradhansidharth.1987@gmail.com

Abstract

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome.

Keywords

Hearing loss, Postaxial polydactyly, Rod-cone dystrophy, Serous otitis media

How to cite this article :

Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty. BARDET BIEDL SYNDROME – A REPORT OF TWO CASES WITH OTOLARYNGOLOGIC SYMPTOMS. Journal of Clinical and Diagnostic Research [serial online] 2017 March [cited: 2017 Apr 27 ]; 11:ND01-ND02. Available from
http://jcdr.net/back_issues.asp?issn=0973-709x&year=2017&month=March&volume=11&issue=3&page=ND01-ND02&id=9466

DOI and Others

DOI: 10.7860/JCDR/2017/24499.9466

Date of Submission: Sep 30, 2016
Date of Peer Review: Oct 30, 2016
Date of Acceptance: Dec 06, 2016
Date of Publishing: Mar 01, 2017

Financial OR OTHER COMPETING INTERESTS: None.

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